Posts filed under ‘Genetics’

When I sat down with Rick Geswell, president & CEO of the Crohn’s & Colitis Foundation of America (CCFA) in September, I knew the conversation would focus primarily around CCFA’s Genetics and Microbiome Initiative. I had seen the video that CCFA put out but beyond that, knew very little about the two initiatives and definitely had no idea how microbiota are linked to Crohn’s disease and ulcerative colitis. But what I learned about it is fascinating.

In the six and a half years that Dan has been treated for Crohn’s disease, he has lucked out in that, for the most part, he has not experienced any serious side effects from medication. Asacol did nothing to him (in fact, it didn’t even help him). The only other medication he’s been on is 6-MP and that gave him terrible fatigue so severe that he could barely function.

Remicade

For the past 3 years, Dan has getting Remicade infusions every six weeks. He suffers very little side effects from it- in fact, the only thing he feels from it is sleepiness after the infusion caused by Benadryl and a slight headache. These all pass within a few hours to a day of the infusion.

As you know, Remicade can cause a variety of side effects ranging from mild ones like headaches, stomach pain or nausea to serious ones like joint/muscle pain, vision changes and anaphylaxis. Dan’s reaction to the medication, so far, has been on the mild side (knock on wood).

However, for over a year now, we have been baffled by one side effect he’s been experiencing since being on the medication – extreme thirst. Dan is extremely, insatiably thirsty every day. He has some days where when he wakes up, the thirst/dehydration is so bad that he feels nauseous and ill. He drinks constantly throughout the day but nothing seems to help his thirst.

Today, the Crohn’s & Colitis Foundation of America released its “Challenges in IBD Research” report outlining what’s been accomplished in the field of research over the past five years and what they hope to accomplish in the future. The last report was released in 2008 and since then, lots has been accomplished in the field of research.

The previous report detailed findings from 2004-2008, including the identification of genes for IBD; a better understanding of the relationship between the immune system and gut bacteria; the discovery of cells that drive and regulate immune responses; and a better understanding of how the immune system keeps stability in the lining of the gut. All of the below information has been pulled from the study’s Lay Summary.

Last week, I wrote about Crohn’s Disease and genetics. Now, a week later, a new study identified even more genes that could be linked to Crohn’s Disease, bringing the total number of genes associated with the disease from 163 to more than 200!

Scientists at University College London recently came up with a new method for identifying genes for complex diseases, like Crohn’s. In doing so, they were able to identify more than 200 genes associated with Crohn’s- more than have been found for any other known disease.

Dr Nikolas Maniatis, senior author from the UCL Research Department of Genetics, Evolution and Environment, said: “The discovery of so many gene locations for Crohn’s Disease is an important step forward in understanding the disease, which has a very complicated genetic basis. We hope that the method we have used here can be used to identify the genes involved in other diseases which are similarly complex, for example different cancers and diabetes.”

Doctors typically don’t do genetic testing for Crohn’s or UC, unless its for research purposes, since the link is still so widely debated. However, with more and more genes being discovered, I wonder if more patients will be genetically tested for the diseases.

Right now, Prometheus, a diagnostic testing company, has a NOD2/CARD15 that is used to identify genes in Crohn’s patients. According to the company’s website,

“…is a test to evaluate certain genetic variants for patients diagnosed with Crohn’s disease. Detection of one or more NOD2/CARD15 genetic mutations suggests a risk of having more severe symptoms and complications of the disease. This testis used to help establish a prognosis that may help guide treatment decisions by you and your doctor.”

The same company also has an IBD diagnostic test that uses serologic, genetic, and inflammation markers for diagnostic clarity. This test, IBD sgi Diagnostic, is supposed to help doctors differentiate between IBD and non-IBD and Crohn’s Disease and UC in one blood test.

The idea of genetic testing for Crohn’s and UC is extremely interesting. I look forward to the day when a test is developed that shows the likelihood of passing IBD along from parent to child.

In a recent post about IBD myths, I talked about how while there is some genetic relationship with IBD, there is no one gene that can be tied to the diseases. Today’s post is about how wrong I was about that!

I did a little digging around about genes associated with IBD and found some pretty interesting information. So here is my attempt to digest the extremely scientific information into something concise and understandable (and please forgive me if I get some of it wrong or if my explanation is confusing!).

Last month, researchers at the National Institutes of Health discovered 71 new genes associated with bowel diseases. That brings the number of genes associated with IBD up to 163. That is a whole lot of genes associated with these diseases- way more than I imagined there would be.

It’s important to note that while these genes are associated with IBD, it does not mean that if you have one of these genes, you will develop the disease. What it means is that you have an increased risk of developing Crohn’s or UC.

For this study, DNA samples were taken from people with Crohn’s Disease (20,076), Ulcerative Colitis (15,307), and people without either disease (25,445) from 15 countries. These samples were analyzed and showed the 71 genes that are associated with Crohn’s and UC.

Of the 163 genes now associated with IBD, 110 are associated with Crohn’s Disease and Ulcerative Colitis. Thirty genes are specific to Crohn’s Disease and 23 are specific to Ulcerative Colitis.